title: Decreased fetal movement prompts investigation of prenatal/neonatal nemaline myopathy: the possible merit of fetal movement count.
abstract: We highlight the merit of fetal movement count to identify a fetus with neuromuscular disorder: nemaline myopathy. A 38-year-old 1-para woman not in a consanguineous marriage had decreased fetal movement. This, together with increased amniotic fluid volume, led us to perform detailed ultrasound examinations, which revealed stretch contracture of the knee joints, leading us to suspect fetal neuromuscular disorders. At 38(2/7), she gave birth vaginally to a 2444 g female infant. Her respiration was very weak, requiring respiratory support. Contractures of the upper/lower extremity joints and club feet were observed. All skeletal muscles were hypotonic. Biopsized muscle cells showed nemaline bodies, confirming the diagnosis of nemaline myopathy. Fetal movement count may contribute to the identification of fetal neuromuscular diseases, such as nemaline myopathy.
authors.affiliation: Department of Obstetrics and Gynecology and Jichi Perinatal Education Center, Jichi Medical University, Tochigi, Japan.
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Kuwata
authors.forename: Shigeki
authors.initials: S
authors.lastname: Matsubara
authors.forename: Takashi
authors.initials: T
authors.lastname: Ohkusa
authors.forename: Yukari
authors.initials: Y
authors.lastname: Yada
authors.forename: Mitsuaki
authors.initials: M
authors.lastname: Suzuki
mesh_terms: D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000503:physiopathology; D005323:Fetal Monitoring; D005324:Fetal Movement; D006801:Humans; D007231:Infant, Newborn; D050498:Live Birth; D017696:Myopathies, Nemaline / Q000000981:diagnostic imaging* / Q000503:physiopathology; D006831:Polyhydramnios / Q000209:etiology; D011247:Pregnancy; D016216:Ultrasonography, Prenatal